Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908585
rs121908585
9 0.827 0.080 4 54285926 missense variant A/T snv 0.800 0.952 21 2003 2018
dbSNP: rs786201095
rs786201095
7 0.827 0.160 1 17028643 missense variant A/C snv 1.2E-05 0.700 1.000 17 2005 2018
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.850 1.000 16 1998 2017
dbSNP: rs587782604
rs587782604
7 0.827 0.120 1 17022684 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 16 2003 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2002 2019
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.750 1.000 12 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2008 2019
dbSNP: rs772551056
rs772551056
9 0.807 0.120 1 17044824 missense variant C/A;T snv 4.0E-06 0.700 1.000 11 2003 2016
dbSNP: rs121913523
rs121913523
KIT
2 1.000 0.040 4 54728092 missense variant T/A;C snv 0.730 0.900 10 2005 2019
dbSNP: rs587782703
rs587782703
8 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 0.700 1.000 10 2006 2013
dbSNP: rs74315366
rs74315366
6 0.851 0.120 1 17033078 stop gained G/A;C snv 8.0E-06 0.700 1.000 10 2001 2014
dbSNP: rs74315370
rs74315370
5 0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05 0.700 1.000 10 2003 2017
dbSNP: rs786203251
rs786203251
5 0.882 0.080 1 17022649 missense variant G/A;T snv 0.700 1.000 10 1992 2013
dbSNP: rs1131691049
rs1131691049
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 1.000 9 2003 2013
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.730 1.000 9 1999 2018
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.760 1.000 8 2001 2014
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.740 0.875 8 1999 2016
dbSNP: rs397516836
rs397516836
5 0.882 0.080 1 17024015 stop gained C/A;T snv 0.700 1.000 8 2006 2012
dbSNP: rs121908586
rs121908586
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.720 1.000 7 2003 2014
dbSNP: rs397516833
rs397516833
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 6 2007 2016
dbSNP: rs398122805
rs398122805
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 6 2006 2014
dbSNP: rs587776653
rs587776653
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 1.000 6 2003 2014
dbSNP: rs786202100
rs786202100
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs1060502543
rs1060502543
KIT
1 4 54727501 inframe deletion GAT/- delins 0.700 1.000 5 1998 2015
dbSNP: rs1060503757
rs1060503757
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013